|Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1|
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
|Early, accurate diagnosis and early intervention in cerebral palsy: advances in diagnosis and treatment|
I Novak, C Morgan, L Adde, J Blackman, RN Boyd, ...
JAMA pediatrics 171 (9), 897-907, 2017
|Mutations in TPM3 are a common cause of congenital fiber type disproportion|
NF Clarke, H Kolski, DE Dye, E Lim, RLL Smith, R Patel, MC Fahey, ...
Annals of neurology 63 (3), 329-337, 2008
|Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C|
FA Wijburg, F Sedel, M Pineda, CJ Hendriksz, M Fahey, M Walterfang, ...
Neurology 78 (20), 1560-1567, 2012
|Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial|
J Burns, RA Ouvrier, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, ...
The Lancet Neurology 8 (6), 537-544, 2009
|The neuropsychiatry of Niemann-Pick type C disease in adulthood|
M Walterfang, M Fietz, M Fahey, D Sullivan, P Leane, DI Lubman, ...
The Journal of neuropsychiatry and clinical neurosciences 18 (2), 158-170, 2006
|Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia|
MC Fahey, PD Cremer, ST Aw, L Millist, MJ Todd, OB White, M Halmagyi, ...
Brain 131 (4), 1035-1045, 2008
|Metabolic disorders and mental retardation|
SG Kahler, MC Fahey
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2003
|White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study|
M Walterfang, M Fahey, P Desmond, A Wood, ML Seal, C Steward, ...
Neurology 75 (1), 49-56, 2010
|How is disease progress in Friedreich’s ataxia best measured? A study of four rating scales|
MC Fahey, L Corben, V Collins, AJ Churchyard, MB Delatycki
Journal of Neurology, Neurosurgery & Psychiatry 78 (4), 411-413, 2007
|Antioxidants and other pharmacological treatments for Friedreich ataxia|
M Kearney, RW Orrell, M Fahey, M Pandolfo
Cochrane Database of systematic reviews, 2012
|Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome|
SM White, EM Thompson, A Kidd, R Savarirayan, A Turner, D Amor, ...
American Journal of Medical Genetics Part A 127 (2), 118-127, 2004
|Australian Cerebral Palsy Child Study: protocol of a prospective population based study of motor and brain development of preschool aged children with cerebral palsy|
RN Boyd, R Jordan, L Pareezer, A Moodie, C Finn, B Luther, E Arnfield, ...
BMC neurology 13 (1), 57, 2013
|A new dominantly inherited pure cerebellar ataxia, SCA 30|
E Storey, M Bahlo, M Fahey, O Sisson, CJ Lueck, RJM Gardner
Journal of Neurology, Neurosurgery & Psychiatry 80 (4), 408-411, 2009
|Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria|
SJ Turner, MS Hildebrand, S Block, J Damiano, M Fahey, S Reilly, ...
American journal of medical genetics Part A 161 (9), 2321-2326, 2013
|The relationship between motor abilities and early social development in a preschool cohort of children with cerebral palsy|
K Whittingham, M Fahey, B Rawicki, R Boyd
Research in developmental disabilities 31 (6), 1346-1351, 2010
|Preterm hypoxic–ischemic encephalopathy|
KR Gopagondanahalli, J Li, MC Fahey, RW Hunt, G Jenkin, SL Miller, ...
Frontiers in pediatrics 4, 114, 2016
|The genetic basis of cerebral palsy|
MC Fahey, AH Maclennan, D Kretzschmar, J Gecz, MC Kruer
Developmental Medicine & Child Neurology 59 (5), 462-469, 2017
|Concise review: Stem cell interventions for people with cerebral palsy: Systematic review with meta‐analysis|
I Novak, K Walker, RW Hunt, EM Wallace, M Fahey, N Badawi
Stem cells translational medicine 5 (8), 1014-1025, 2016
|Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations|
JE Wraith, F Sedel, M Pineda, FA Wijburg, CJ Hendriksz, M Fahey, ...
Journal of inherited metabolic disease 37 (1), 93-101, 2014